Department of Neurosurgery and Research Institute of Clinical Medicine, Chonbuk National University Medical School and Hospital, Chonju, Chonbuk, South Korea.
J Hum Genet. 2011 Jun;56(6):464-6. doi: 10.1038/jhg.2011.27. Epub 2011 Mar 31.
Intracranial aneurysm (IA) is characterized by an abnormal bulging of one of the arteries in the brain and is heavily affected by genetic factors. Although IA is a very serious disease because of its severity and prevalence in the general public, the gene causing IA has not yet been identified due mainly to the lack of definitive genetic loci for the disease. Following a model-based family collection that recruited families from a geographically limited area that inherited IA as an autosomal dominant trait, we conducted a genome-wide linkage analysis. Significant evidence of linkage to IA was found on chromosome 8p22.2 with a maximum two-point logarithm of the odds ratio score of 3.61 under an autosomal dominant model of inheritance. The methods described in this study could be applied to localize disease-causing genes of other complex diseases through either a genome-wide linkage analysis or a genome-wide association study.
颅内动脉瘤（IA）的特征是大脑中的一条动脉异常膨出，受遗传因素的影响很大。尽管由于其严重性和在普通人群中的普遍性，IA 是一种非常严重的疾病，但由于缺乏明确的疾病遗传位点，导致导致 IA 的基因尚未确定。在基于模型的家庭收集后，我们从一个遗传 IA 为常染色体显性特征的地理上有限的地区招募了家庭，并进行了全基因组连锁分析。在常染色体显性遗传模型下，在 8p22.2 染色体上发现了与 IA 显著连锁的证据，最大两点对数优势比评分达到 3.61。本研究中描述的方法可以通过全基因组连锁分析或全基因组关联研究应用于定位其他复杂疾病的致病基因。
